Product Details

SNP ID

rs193196784

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:185399727 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGTTGCCGTGCTCAGACAGAAA[C/T]GGAGTCTCGGAAGTGTAGAAAATAC

Phenotype

MIM: 611482

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ANKRD37 PubMed Links

Additional Information

For this assay, SNP(s) [rs4631093] are located under a probe and SNP(s) [rs4317244] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ANKRD37

Gene Name

ankyrin repeat domain 37

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181726.3	2192	Missense Mutation	CGG,TGG	R144W	NP_859077.1
XM_017008176.1	2192	Missense Mutation	CGG,TGG	R144W	XP_016863665.1

Gene

C4orf47

Gene Name

chromosome 4 open reading frame 47

There are no transcripts associated with this gene.

Gene

LRP2BP

Gene Name

LRP2 binding protein

There are no transcripts associated with this gene.

Gene

UFSP2

Gene Name

UFM1 specific peptidase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018359.3	2192	UTR 3			NP_060829.2

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